Variant report

Variant	rs9953256
Chromosome Location	chr18:43663246-43663247
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43660484..43663563-chr18:43665888..43668889,3	K562	blood:

Variant related genes	Relation type
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4890609	1.00[JPT][hapmap]
rs9946831	1.00[YRI][hapmap]
rs9956449	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43652600-43665000	Weak transcription	Aorta	Aorta
2	chr18:43652800-43664000	Weak transcription	K562	blood
3	chr18:43653400-43663800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:43653600-43665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:43653600-43666200	Weak transcription	Stomach Mucosa	stomach
6	chr18:43653600-43669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:43653800-43663400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr18:43654200-43665800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:43655400-43666600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:43656200-43667800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:43657000-43668400	Strong transcription	GM12878-XiMat	blood
12	chr18:43657000-43672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:43657200-43664600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr18:43657200-43669600	Strong transcription	Primary B cells from cord blood	blood
15	chr18:43657200-43673800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr18:43657200-43674800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:43657200-43674800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:43657200-43675000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:43657200-43675400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:43657200-43675400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr18:43657200-43675600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:43657200-43676000	Strong transcription	Osteobl	bone
23	chr18:43657200-43676200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr18:43657400-43669400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:43657400-43673400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr18:43657400-43674600	Strong transcription	Liver	Liver
27	chr18:43657400-43674800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:43657400-43675000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr18:43657400-43675200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr18:43657400-43675400	Strong transcription	Placenta	Placenta
31	chr18:43657400-43675800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr18:43657400-43675800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:43657600-43669400	Strong transcription	Fetal Thymus	thymus
34	chr18:43657600-43672400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:43657600-43673400	Strong transcription	Dnd41	blood
36	chr18:43657600-43674400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:43657600-43674600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:43657600-43675200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:43657800-43675200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:43657800-43675800	Strong transcription	Fetal Muscle Leg	muscle
41	chr18:43657800-43676600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:43658000-43664200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:43658000-43669200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:43658000-43670000	Strong transcription	Fetal Stomach	stomach
45	chr18:43658000-43670600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr18:43658000-43670800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:43658000-43675400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr18:43658200-43671800	Weak transcription	Right Atrium	heart
49	chr18:43658600-43668400	Strong transcription	Left Ventricle	heart
50	chr18:43658600-43675000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links